The molecular autopsy: An indispensable step following sudden cardiac death in the young?

Nicole J. Boczek, David J. Tester, Michael John Ackerman

Research output: Contribution to journalArticle

19 Scopus citations

Abstract

Annually thousands of sudden deaths involving young individuals (< 35 years of age) remain unexplained following a complete medicolegal investigation that includes an autopsy. In fact, epidemiological studies have estimated that over half of sudden deaths involving previously healthy young individuals have no morphological abnormalities identifiable at autopsy. Cardiac channelopathies associated with structurally normal hearts such as long QT syndrome (LQTS), catecholaminergic polymorphic ventricular tachycardia (CPVT), and Brugada syndrome (BrS), leave no evidence to be found at autopsy, leaving investigators to only speculate that a lethal arrhythmia might lie at the heart of a sudden unexplained death (SUD). In cases of autopsy-negative SUD, continued investigation, through the use of a cardiological and genetic evaluation of first- or second-degree relatives and/or a molecular autopsy, may pinpoint the underlying mechanism attributing to the sudden death and allow for the identification of living family members with the pathogenic substrate that renders them vulnerable to an increased risk for cardiac events, including sudden death.

Original languageEnglish (US)
Pages (from-to)167-173
Number of pages7
JournalHerzschrittmachertherapie und Elektrophysiologie
Volume23
Issue number3
DOIs
StatePublished - Sep 2012

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Keywords

  • Channelopathies
  • Genetic testing
  • Long QT syndrome
  • Molecular autopsy
  • Sudden death

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine
  • Physiology (medical)

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